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雷帕霉素靶蛋白,一种治疗自闭症谱系障碍的潜在靶点。

mTOR, a Potential Target to Treat Autism Spectrum Disorder.

作者信息

Sato Atsushi

机构信息

Department of Pediatrics, The University of Tokyo Hospital, Addictive Substance Project, Tokyo Metropolitan Institute of Medical Science, Hongo 7-3-1, Bunkyo-ku, Tokyo, 113- 8655, Japan.

出版信息

CNS Neurol Disord Drug Targets. 2016;15(5):533-43. doi: 10.2174/1871527315666160413120638.

Abstract

Mammalian target of rapamycin (mTOR) is a key regulator in various cellular processes, including cell growth, gene expression, and synaptic functions. Autism spectrum disorder (ASD) is frequently accompanied by monogenic disorders, such as tuberous sclerosis complex, phosphatase and tensin homolog tumor hamartoma syndrome, neurofibromatosis 1, and fragile X syndrome, in which mTOR is hyperactive. Mutations in the genes involved in the mTOR-mediated signaling pathway have been identified in some cases of syndromic ASD. Evidences indicate a pathogenic role for hyperactive mTOR-mediated signaling in ASD associated with these monogenic disorders, and mTOR inhibitors are a potential pharmacotherapy for ASD. Abnormal synaptic transmission through metabotropic glutamate receptor 5 may underlie in a part of ASD associated with hyperactive mTOR-mediated signaling. In this review, the relationship between mTOR and ASD is discussed.

摘要

雷帕霉素哺乳动物靶点(mTOR)是多种细胞过程中的关键调节因子,包括细胞生长、基因表达和突触功能。自闭症谱系障碍(ASD)常伴有单基因疾病,如结节性硬化症复合体、磷酸酶和张力蛋白同源性肿瘤错构瘤综合征、神经纤维瘤病1型和脆性X综合征,其中mTOR过度活跃。在一些综合征性ASD病例中,已鉴定出参与mTOR介导信号通路的基因突变。有证据表明,mTOR介导的信号过度活跃在与这些单基因疾病相关的ASD中具有致病作用,mTOR抑制剂是ASD的一种潜在药物治疗方法。通过代谢型谷氨酸受体5的异常突触传递可能是与mTOR介导信号过度活跃相关的部分ASD的基础。在这篇综述中,讨论了mTOR与ASD之间的关系。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ca9e/5070418/7e9437d1e466/CNSNDDT-15-533_F1.jpg

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